Concepedia

Irini Manoli

IM

Statistics

Publications

53

Citations

2.9K

H-Index

33

Active since

2000

Affiliations

National Human Genome Research Institute(Current)

National Institutes of Health

Harvard University

National Institutes of Health Clinical Center

National Institute of Mental Health

Irini Manoli is an author at National Human Genome Research Institute specializing in medicine, life sciences, and methylmalonic acidemia.

ORCID

Publications per year

2000–2024

53

Publications

53

Mutation in the key enzyme of sialic acid biosynthesis causes severe glomerular proteinuria and is rescued by N-acetylmannosamine

Belinda Galeano, Riko Klootwijk, Irini Manoli et al. · Journal of Clinical Investigation · 2007 · 201 citations · Full text

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Glucocorticoid receptor (GR) β has intrinsic, GRα-independent transcriptional activity

Tomoshige Kino, Irini Manoli, Sujata Kelkar et al. · Biochemical and Biophysical Research Communications · 2009 · 168 citations · Full text

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Defects in muscle branched-chain amino acid oxidation contribute to impaired lipid metabolism

Carles Lerín, Allison B. Goldfine, Tanner Boes et al. · Molecular Metabolism · 2016 · 155 citations · Full text

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An X-Linked Cobalamin Disorder Caused by Mutations in Transcriptional Coregulator HCFC1

Hung‐Chun Yu, Jennifer L. Sloan, Gunter Scharer et al. · The American Journal of Human Genetics · 2013 · 133 citations · Full text

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Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia

Irini Manoli, Justin R. Sysol, Lingli Li et al. · Proceedings of the National Academy of Sciences · 2013 · 119 citations · Full text

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